Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease in clinical practice:: Results of a prospective study

被引:74
作者
Seiderer, Julia
Brand, Stephan
Herrmann, Karin A.
Schnitzler, Fabian
Hatz, Rudolf
Crispin, Alexander
Pfennig, Simone
Schoenberg, Stefan O.
Goeke, Burkhard
Lohse, Peter
Ochsenkuehn, Thomas
机构
[1] Univ Munich, Dept Internal Med Grosshadern 2, D-81377 Munich, Germany
[2] Univ Munich, Dept Radiol Grosshadern, D-81377 Munich, Germany
[3] Univ Munich, Dept Surg Grosshadern, D-81377 Munich, Germany
[4] Univ Munich, Dept Med Informat Biometry & Epidemiol, D-81377 Munich, Germany
[5] Univ Munich, Dept Clin Chem Grosshadern, D-81377 Munich, Germany
关键词
Crohn's disease; inflammatory bowel disease; genetics; CARD15/NOD2; intestinal stenosis;
D O I
10.1097/01.mib.0000235836.32176.5e
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background and Aim: The diagnostic and therapeutic relevance of CARD15 genotyping in Crohn's disease (CD) for daily clinical practice has not been investigated so far. We therefore analyzed whether CARD15 variants are independent predictive factors for small bowel stenosis in CD evaluated by magnetic resonance enteroclysis (MRE). On the basis of these findings, the potential implications for patient management were investigated. Methods: Eighty CD patients with clinical symptoms suggestive of small bowel stenosis were included. All patients were genotyped for the CARD15 variants c.2104C > T (p.R702W), c.2722G > C (p.G908R), and c.3019_3020insC (p.Leu1007fsX1008) and examined by MIZE of the small bowel. Results: CARD15 variants were found in 40 (50%) patients. MRE identified 31 (38%) patients with small bowel stenoses. Twenty-five of the 40 (62%) patients with at least one CARD15 variant were diagnosed of intestinal stenosis by MRE (odds ratio [OR] = 9.44; confidence interval [CI] 3.21-27.77; P = 0.00028, Bonferroni corrected). Particularly, the presence of the 1007fs variant was associated with an increased risk of an intestinal stenosis (OR = 12.00, CI 3.47-41.54, P = 0.00042, Bonferroni corrected). Twenty-one of 31 (68%) patients with stenoses required surgical intervention, with 13 of these 21 (62%) patients carrying the 1007fs variant. Conclusion: In the largest prospective study analyzing the diagnostic value of CARD15 variants in CD patients performed so far, we identified the 1007fs variant as strong predictor for intestinal stenoses with need for surgery in CD patients. Genotyping could therefore be an important diagnostic tool in clinical practice for identifying high-risk patients with specific diagnostic and therapeutic needs. Moreover, MIZE is an excellent technique for diagnosing small bowel stenoses.
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页码:1114 / 1121
页数:8
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